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Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome

Purposes: We aimed to characterize the USH2A genotypic spectrum in a Chinese cohort and provide a detailed genetic profile for Chinese patients with USH2A-IRD. Methods: We designed a retrospective study wherein a total of 1,334 patients diagnosed with IRD were included as a study cohort, namely 1,27...

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Detalles Bibliográficos
Autores principales:	Li, Wei, Jiang, Xiao-Sen, Han, Dong-Ming, Gao, Jia-Yu, Yang, Zheng-Tao, Jiang, Li, Zhang, Qian, Zhang, Sheng-Hai, Gao, Ya, Wu, Ji-Hong, Li, Jian-Kang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9468824/ https://www.ncbi.nlm.nih.gov/pubmed/36110214 http://dx.doi.org/10.3389/fgene.2022.900548

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